HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Niggl, Eva; Bouman, Arjan; Briere, Lauren C.; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D. R. O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; McPheron, Molly; Muss, Candace L.; Raible, Sarah E.; Robin, Nathaniel H.; Spiller, Michael; Starling, Susan; Sweetser, David A.; Thiffault, Isabelle; Vetrini, Francesco; Witt, Dennis; Woods, Emily; Genomics England Res Consortium, Ype; Undiagnosed Dis Network, Annelot C. M. van; Elgersma, Ype; van Esbroeck, Annelot C. M.

dc.contributor.author	Park, Joohyun
dc.contributor.author	Admard, Jakob
dc.contributor.author	Bertrand, Miriam
dc.contributor.author	Haack, Tobias
dc.contributor.author	Witt, Dennis
dc.date.accessioned	2024-01-11T09:15:47Z
dc.date.available	2024-01-11T09:15:47Z
dc.date.issued	2023
dc.identifier.issn	0002-9297
dc.identifier.uri	http://hdl.handle.net/10900/149148
dc.language.iso	en	en
dc.publisher	Cambridge : Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2023.07.005
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder	de_DE
dc.type	Article	de_DE
utue.quellen.id	20230928000000_00292
utue.publikation.seiten	1414-1435	de_DE
utue.personen.roh	Niggl, Eva
utue.personen.roh	Bouman, Arjan
utue.personen.roh	Briere, Lauren C.
utue.personen.roh	Hoogenboezem, Remco M.
utue.personen.roh	Wallaard, Ilse
utue.personen.roh	Park, Joohyun
utue.personen.roh	Admard, Jakob
utue.personen.roh	Wilke, Martina
utue.personen.roh	Harris-Mostert, Emilio D. R. O.
utue.personen.roh	Elgersma, Minetta
utue.personen.roh	Bain, Jennifer
utue.personen.roh	Balasubramanian, Meena
utue.personen.roh	Banka, Siddharth
utue.personen.roh	Benke, Paul J.
utue.personen.roh	Bertrand, Miriam
utue.personen.roh	Blesson, Alyssa E.
utue.personen.roh	Clayton-Smith, Jill
utue.personen.roh	Ellingford, Jamie M.
utue.personen.roh	Gillentine, Madelyn A.
utue.personen.roh	Goodloe, Dana H.
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Jain, Mahim
utue.personen.roh	Krantz, Ian
utue.personen.roh	Luu, Sharon M.
utue.personen.roh	McPheron, Molly
utue.personen.roh	Muss, Candace L.
utue.personen.roh	Raible, Sarah E.
utue.personen.roh	Robin, Nathaniel H.
utue.personen.roh	Spiller, Michael
utue.personen.roh	Starling, Susan
utue.personen.roh	Sweetser, David A.
utue.personen.roh	Thiffault, Isabelle
utue.personen.roh	Vetrini, Francesco
utue.personen.roh	Witt, Dennis
utue.personen.roh	Woods, Emily
utue.personen.roh	Genomics England Res Consortium, Ype
utue.personen.roh	Undiagnosed Dis Network, Annelot C. M. van
utue.personen.roh	Elgersma, Ype
utue.personen.roh	van Esbroeck, Annelot C. M.
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	8	de_DE
dcterms.isPartOf.ZS-Volume	110	de_DE
utue.fakultaet	04 Medizinische Fakultät